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Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo

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Siblings with optic neuropathy and RTN4IP1 mutation.

Nobuhiko Okamoto¹, Fuyuki Miya^2,3, Yoshikazu Hatsukawa⁴

¹Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.

Journal of Human Genetics

|June 23, 2017

Summary

This study identifies novel mutations in the RTN4IP1 gene causing OPA10, a rare inherited optic neuropathy. The affected Japanese brothers exhibited extraocular symptoms, highlighting the genetic basis of optic nerve disorders.

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Area of Science:

Ophthalmology
Genetics
Neuroscience

Background:

Inherited optic neuropathies (IONs) encompass a group of neurodegenerative disorders impacting the optic nerve and nervous system.
While dominant forms are common, often linked to OPA1 mutations, autosomal-recessive IONs are rare.
OPA10 is an autosomal-recessive ION subtype caused by mutations in the RTN4IP1 gene, frequently presenting with extraocular manifestations.

Observation:

Autosomal-recessive IONs are less common, with OPA10 being a specific type caused by mutations in the RTN4IP1 gene.
Patients with RTN4IP1 mutations frequently exhibit extraocular manifestations beyond optic nerve dysfunction.

Findings:

This report details two brothers with optic neuropathy harboring previously unidentified mutations within the RTN4IP1 gene.
These cases represent the first documented instances of OPA10 in Japanese patients.
The affected individuals displayed extraocular symptoms suggestive of mitochondrial encephalopathy.

Implications:

This research expands the known mutational spectrum of RTN4IP1 and contributes to the understanding of OPA10.
The findings underscore the importance of genetic investigation in diagnosing IONs with complex presentations.
Identifying novel mutations in RTN4IP1 provides crucial insights into the pathogenesis of inherited optic neuropathies and associated systemic features.